Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L2
Variant:p.D197A
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DNASE1L2

NM_001374.3:p.D197A

Associated Papers

Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes.

Ueki M et al.

Gene, 2015

Five non-synonymous SNPs in the gene encoding human deoxyribonuclease I-like 2 implicated in terminal differentiation of keratinocytes reduce or abolish its activity.

Ueki M et al.

Electrophoresis, 2013

Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.

Fujihara J et al.

Electrophoresis, 2010

Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.

Ueki M et al.

Electrophoresis, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."